| Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export A Legati, D Giovannini, G Nicolas, U López-Sánchez, B Quintáns, ... Nature genetics 47 (6), 579-581, 2015 | 266 | 2015 |
| Mutation detection in the ABCC6 gene and genotype–phenotype analysis in a large international case series affected by pseudoxanthoma elasticum EG Pfendner, OM Vanakker, SF Terry, S Vourthis, PE McAndrew, ... Journal of medical genetics 44 (10), 621-628, 2007 | 216 | 2007 |
| Pseudoxanthoma elasticum-like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate genetic entity OM Vanakker, L Martin, D Gheduzzi, BP Leroy, BL Loeys, VI Guerci, ... Journal of Investigative Dermatology 127 (3), 581-587, 2007 | 211 | 2007 |
| Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria S Symoens, D Syx, F Malfait, B Callewaert, J De Backer, O Vanakker, ... Human mutation 33 (10), 1485-1493, 2012 | 178 | 2012 |
| Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus G Beunders, E Voorhoeve, C Golzio, LM Pardo, JA Rosenfeld, ... The American Journal of Human Genetics 92 (2), 210-220, 2013 | 176 | 2013 |
| Endogenous calcification inhibitors in the prevention of vascular calcification: a consensus statement from the COST action EuroSoftCalcNet M Bäck, T Aranyi, ML Cancela, M Carracedo, N Conceição, G Leftheriotis, ... Frontiers in cardiovascular medicine 5, 196, 2019 | 113 | 2019 |
| Implementation of genomic arrays in prenatal diagnosis: the Belgian approach to meet the challenges O Vanakker, C Vilain, K Janssens, N Van der Aa, G Smits, C Bandelier, ... European journal of medical genetics 57 (4), 151-156, 2014 | 108 | 2014 |
| Mutations in CDC45, encoding an essential component of the pre-initiation complex, cause Meier-Gorlin syndrome and craniosynostosis AL Fenwick, M Kliszczak, F Cooper, J Murray, L Sanchez-Pulido, ... The American Journal of Human Genetics 99 (1), 125-138, 2016 | 105 | 2016 |
| Novel clinico‐molecular insights in pseudoxanthoma elasticum provide an efficient molecular screening method and a comprehensive diagnostic flowchart OM Vanakker, BP Leroy, P Coucke, LG Bercovitch, J Uitto, D Viljoen, ... Human mutation 29 (1), 205-205, 2008 | 105 | 2008 |
| Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa B Callewaert, CT Su, T Van Damme, P Vlummens, F Malfait, O Vanakker, ... Human mutation 34 (1), 111-121, 2013 | 99 | 2013 |
| Left ventricular outflow obstruction in rhabdomyoma of infancy: meta-analysis of the literature HA Verhaaren, O Vanakker, D De Wolf, B Suys, K François, D Matthys The Journal of pediatrics 143 (2), 258-263, 2003 | 86 | 2003 |
| Interpreting genetic variants in titin in patients with muscle disorders M Savarese, L Maggi, A Vihola, PH Jonson, G Tasca, L Ruggiero, L Bello, ... JAMA neurology 75 (5), 557-565, 2018 | 84 | 2018 |
| Low serum vitamin K in PXE results in defective carboxylation of mineralization inhibitors similar to the GGCX mutations in the PXE-like syndrome OM Vanakker, L Martin, LJ Schurgers, D Quaglino, L Costrop, C Vermeer, ... Laboratory Investigation 90 (6), 895-905, 2010 | 83 | 2010 |
| Characterization of cardiovascular involvement in pseudoxanthoma elasticum families L Campens, OM Vanakker, B Trachet, P Segers, BP Leroy, J De Zaeytijd, ... Arteriosclerosis, thrombosis, and vascular biology 33 (11), 2646-2652, 2013 | 80 | 2013 |
| Redefining the MED13L syndrome A Adegbola, L Musante, B Callewaert, P Maciel, H Hu, B Isidor, ... European Journal of Human Genetics 23 (10), 1308-1317, 2015 | 79 | 2015 |
| SNX10 mutations define a subgroup of human autosomal recessive osteopetrosis with variable clinical severity A Pangrazio, A Fasth, A Sbardellati, PJ Orchard, KA Kasow, J Raza, ... Journal of bone and mineral research 28 (5), 1041-1049, 2013 | 75 | 2013 |
| The genetics of soft connective tissue disorders O Vanakker, B Callewaert, F Malfait, P Coucke Annual review of genomics and human genetics 16, 229-255, 2015 | 69 | 2015 |
| Histopathology of pseudoxanthoma elasticum and related disorders: histological hallmarks and diagnostic clues MJ Hosen, A Lamoen, A De Paepe, OM Vanakker Scientifica 2012, 2012 | 69 | 2012 |
| Vitamin K does not prevent soft tissue mineralization in a mouse model of pseudoxanthoma elasticum C Brampton, Y Yamaguchi, O Vanakker, L Van Laer, LH Chen, M Thakore, ... Cell Cycle 10 (11), 1810-1820, 2011 | 61 | 2011 |
| Primary brain calcification: an international study reporting novel variants and associated phenotypes EM Ramos, M Carecchio, R Lemos, J Ferreira, A Legati, RL Sears, ... European Journal of Human Genetics 26 (10), 1462-1477, 2018 | 59 | 2018 |
